Incidental Mutation 'R5995:Hace1'
| ID |
481075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hace1
|
| Ensembl Gene |
ENSMUSG00000038822 |
| Gene Name |
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 |
| Synonyms |
A730034A22Rik, 1700042J16Rik |
| MMRRC Submission |
044174-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.545)
|
| Stock # |
R5995 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
45453925-45588441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45546487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 374
(I374L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037044
AA Change: I374L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: I374L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
64 |
93 |
3.23e-4 |
SMART |
|
ANK
|
97 |
126 |
7.76e-7 |
SMART |
|
ANK
|
130 |
159 |
8.26e-2 |
SMART |
|
ANK
|
163 |
192 |
1.94e-7 |
SMART |
|
ANK
|
196 |
227 |
1.65e-1 |
SMART |
|
ANK
|
228 |
257 |
5.98e1 |
SMART |
|
Blast:HECTc
|
372 |
522 |
7e-87 |
BLAST |
|
HECTc
|
572 |
909 |
1.76e-138 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131406
|
| SMART Domains |
Protein: ENSMUSP00000118554
Gene: ENSMUSG00000038822
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
7 |
300 |
2.63e-96 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150511
|
| SMART Domains |
Protein: ENSMUSP00000117985
Gene: ENSMUSG00000038822
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
55 |
329 |
1.76e-74 |
SMART |
|
| Meta Mutation Damage Score |
0.0783 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit increased spontaneous and induced tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Adgrb2 |
C |
A |
4: 129,910,896 (GRCm39) |
A1104E |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,614,378 (GRCm39) |
V4005A |
probably benign |
Het |
| Bend6 |
T |
C |
1: 33,917,520 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
A |
T |
16: 95,865,987 (GRCm39) |
V265E |
probably damaging |
Het |
| Ccdc96 |
A |
G |
5: 36,643,718 (GRCm39) |
I575V |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,607,561 (GRCm39) |
I1094L |
probably benign |
Het |
| Cd44 |
A |
G |
2: 102,692,015 (GRCm39) |
V91A |
probably damaging |
Het |
| Cdv3 |
C |
G |
9: 103,241,202 (GRCm39) |
G122R |
probably damaging |
Het |
| Ces2c |
T |
A |
8: 105,577,533 (GRCm39) |
V272D |
possibly damaging |
Het |
| Colgalt1 |
T |
A |
8: 72,075,754 (GRCm39) |
M467K |
probably damaging |
Het |
| Crtam |
G |
A |
9: 40,905,836 (GRCm39) |
T31M |
possibly damaging |
Het |
| Cyp7a1 |
C |
T |
4: 6,272,371 (GRCm39) |
V281M |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,659,829 (GRCm39) |
N726K |
probably benign |
Het |
| Dok6 |
T |
C |
18: 89,439,142 (GRCm39) |
E232G |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,806,540 (GRCm39) |
E217G |
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,180,111 (GRCm39) |
Y618F |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,352,377 (GRCm39) |
Y183H |
probably benign |
Het |
| Hif3a |
T |
A |
7: 16,787,694 (GRCm39) |
T132S |
probably benign |
Het |
| Hoxa3 |
T |
A |
6: 52,147,263 (GRCm39) |
|
probably benign |
Het |
| Il27 |
A |
C |
7: 126,188,535 (GRCm39) |
|
probably benign |
Het |
| Klhdc1 |
T |
C |
12: 69,297,548 (GRCm39) |
Y40H |
probably damaging |
Het |
| Klhl33 |
T |
G |
14: 51,130,108 (GRCm39) |
E462A |
possibly damaging |
Het |
| Myh10 |
T |
C |
11: 68,705,809 (GRCm39) |
I1979T |
probably benign |
Het |
| Nfkbil1 |
G |
T |
17: 35,439,774 (GRCm39) |
F246L |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,072,572 (GRCm39) |
F424I |
probably damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,539 (GRCm39) |
Y260H |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,433,898 (GRCm39) |
L69P |
probably damaging |
Het |
| Onecut2 |
G |
T |
18: 64,474,619 (GRCm39) |
R390L |
probably damaging |
Het |
| Oprm1 |
A |
C |
10: 6,782,520 (GRCm39) |
M388L |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,848,226 (GRCm39) |
I118N |
possibly damaging |
Het |
| Or1e26 |
T |
C |
11: 73,480,076 (GRCm39) |
I163V |
probably benign |
Het |
| Or1o3 |
C |
A |
17: 37,574,539 (GRCm39) |
Q5H |
probably benign |
Het |
| Or5aq1 |
T |
C |
2: 86,966,200 (GRCm39) |
N155S |
probably damaging |
Het |
| Or5b96 |
A |
C |
19: 12,867,961 (GRCm39) |
|
probably null |
Het |
| Or8g53 |
A |
G |
9: 39,683,988 (GRCm39) |
V36A |
probably benign |
Het |
| Pcdhgc5 |
T |
A |
18: 37,954,113 (GRCm39) |
Y462* |
probably null |
Het |
| Pex1 |
T |
A |
5: 3,657,704 (GRCm39) |
M425K |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,070,105 (GRCm39) |
Y1001N |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,307,195 (GRCm39) |
Y380H |
probably damaging |
Het |
| Pou2f2 |
T |
G |
7: 24,796,869 (GRCm39) |
K236Q |
probably damaging |
Het |
| Rbm20 |
G |
A |
19: 53,839,698 (GRCm39) |
E896K |
possibly damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,123,081 (GRCm39) |
L614Q |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,751,029 (GRCm39) |
I339F |
unknown |
Het |
| Slc2a7 |
T |
C |
4: 150,252,797 (GRCm39) |
I479T |
probably damaging |
Het |
| Snrk |
A |
G |
9: 121,986,288 (GRCm39) |
N219S |
probably damaging |
Het |
| Supt20 |
T |
C |
3: 54,616,474 (GRCm39) |
S245P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,591,636 (GRCm39) |
I21011T |
probably damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,194,921 (GRCm39) |
I802F |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,389,213 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
T |
A |
18: 45,019,320 (GRCm39) |
M1363K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,377,071 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
C |
A |
18: 13,850,681 (GRCm39) |
C1261F |
probably damaging |
Het |
| Zfp980 |
A |
T |
4: 145,428,479 (GRCm39) |
K403* |
probably null |
Het |
|
| Other mutations in Hace1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00847:Hace1
|
APN |
10 |
45,548,453 (GRCm39) |
nonsense |
probably null |
|
|
IGL01456:Hace1
|
APN |
10 |
45,586,094 (GRCm39) |
splice site |
probably benign |
|
|
IGL02122:Hace1
|
APN |
10 |
45,494,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02217:Hace1
|
APN |
10 |
45,466,471 (GRCm39) |
splice site |
probably null |
|
|
IGL02493:Hace1
|
APN |
10 |
45,464,515 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02596:Hace1
|
APN |
10 |
45,576,736 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02619:Hace1
|
APN |
10 |
45,547,530 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03163:Hace1
|
APN |
10 |
45,548,701 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0609:Hace1
|
UTSW |
10 |
45,524,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0853:Hace1
|
UTSW |
10 |
45,524,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2038:Hace1
|
UTSW |
10 |
45,576,721 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2212:Hace1
|
UTSW |
10 |
45,524,771 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2328:Hace1
|
UTSW |
10 |
45,525,041 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2881:Hace1
|
UTSW |
10 |
45,547,230 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3005:Hace1
|
UTSW |
10 |
45,524,959 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3414:Hace1
|
UTSW |
10 |
45,524,771 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3930:Hace1
|
UTSW |
10 |
45,587,604 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4014:Hace1
|
UTSW |
10 |
45,464,470 (GRCm39) |
splice site |
probably benign |
|
|
R4335:Hace1
|
UTSW |
10 |
45,586,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4547:Hace1
|
UTSW |
10 |
45,548,651 (GRCm39) |
splice site |
probably null |
|
|
R4812:Hace1
|
UTSW |
10 |
45,562,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4996:Hace1
|
UTSW |
10 |
45,526,046 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5858:Hace1
|
UTSW |
10 |
45,587,621 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6049:Hace1
|
UTSW |
10 |
45,562,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6111:Hace1
|
UTSW |
10 |
45,465,606 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6195:Hace1
|
UTSW |
10 |
45,546,539 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6216:Hace1
|
UTSW |
10 |
45,494,643 (GRCm39) |
missense |
probably benign |
|
|
R6233:Hace1
|
UTSW |
10 |
45,546,539 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6237:Hace1
|
UTSW |
10 |
45,524,986 (GRCm39) |
missense |
probably benign |
|
|
R6467:Hace1
|
UTSW |
10 |
45,466,362 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6930:Hace1
|
UTSW |
10 |
45,494,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Hace1
|
UTSW |
10 |
45,465,603 (GRCm39) |
nonsense |
probably null |
|
|
R7401:Hace1
|
UTSW |
10 |
45,546,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Hace1
|
UTSW |
10 |
45,481,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7471:Hace1
|
UTSW |
10 |
45,577,075 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7533:Hace1
|
UTSW |
10 |
45,587,570 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7661:Hace1
|
UTSW |
10 |
45,481,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7873:Hace1
|
UTSW |
10 |
45,548,883 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7938:Hace1
|
UTSW |
10 |
45,562,792 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7995:Hace1
|
UTSW |
10 |
45,465,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Hace1
|
UTSW |
10 |
45,514,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8019:Hace1
|
UTSW |
10 |
45,514,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Hace1
|
UTSW |
10 |
45,577,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8292:Hace1
|
UTSW |
10 |
45,587,557 (GRCm39) |
nonsense |
probably null |
|
|
R8717:Hace1
|
UTSW |
10 |
45,481,694 (GRCm39) |
missense |
unknown |
|
|
R8757:Hace1
|
UTSW |
10 |
45,546,539 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8814:Hace1
|
UTSW |
10 |
45,528,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8823:Hace1
|
UTSW |
10 |
45,524,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8898:Hace1
|
UTSW |
10 |
45,576,766 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9143:Hace1
|
UTSW |
10 |
45,562,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9297:Hace1
|
UTSW |
10 |
45,528,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9318:Hace1
|
UTSW |
10 |
45,528,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9365:Hace1
|
UTSW |
10 |
45,586,092 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9492:Hace1
|
UTSW |
10 |
45,547,230 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9644:Hace1
|
UTSW |
10 |
45,526,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9656:Hace1
|
UTSW |
10 |
45,547,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9762:Hace1
|
UTSW |
10 |
45,525,014 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Hace1
|
UTSW |
10 |
45,562,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGCACTAAACAGTTTTCTCAG -3'
(R):5'- ATGACGTCTTGACAGTCGGC -3'
Sequencing Primer
(F):5'- CTCAGATTTTTAGCAATTTTCAGGC -3'
(R):5'- AGTCGGCACTGGCTTCCTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation